Article
Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours.
The Journal of pathology - 1 Apr 2009
Bottillo Irene, Ahlquist Terje, Brekke Helge, Danielsen Stine A, van den Berg Eva, Mertens Fredrik, Lothe Ragnhild A, Dallapiccola Bruno
Abstract excerpt
Malignant peripheral nerve sheath tumours (MPNSTs) are a malignancy occurring with increased frequency in patients with neurofibromatosis type 1 (NF1). In contrast to the well-known spectrum of germline NF1 mutations, the information on somatic mutations in MPNSTs is limited. In this study, we screened NF1, KRAS, and BRAF in 47 MPNSTs from patients with (n = 25) and without (n = 22) NF1. In addition, DNA from...
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